Variant report

Variant	nsv1027206
Chromosome Location	chr9:236075-499586
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2526)
CpG islands
(count:427)
Chromatin interactive
region (count:153)
LncRNA
region (count:66)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2526 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:272095-272522	K562	blood:	n/a	n/a
2	ARID3A	chr9:267916-268404	K562	blood:	n/a	n/a
3	ARID3A	chr9:495829-496174	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:272758-273406	K562	blood:	n/a	chr9:273064-273079
5	ARID3A	chr9:489187-489524	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:463883-464115	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:238911-239096	K562	blood:	n/a	n/a
8	ARID3A	chr9:250210-251866	K562	blood:	n/a	n/a
9	ARID3A	chr9:371491-371553	K562	blood:	n/a	n/a
10	ARID3A	chr9:260270-260544	K562	blood:	n/a	n/a
11	ARID3A	chr9:237608-238477	K562	blood:	n/a	n/a
12	ARID3A	chr9:336046-336405	HepG2	liver:	n/a	n/a
13	ATF1	chr9:491995-492195	K562	blood:	n/a	n/a
14	ATF1	chr9:272781-273161	K562	blood:	n/a	n/a
15	ATF1	chr9:249153-249485	K562	blood:	n/a	n/a
16	ATF1	chr9:312958-313372	K562	blood:	n/a	n/a
17	ATF1	chr9:270753-271026	K562	blood:	n/a	n/a
18	ATF1	chr9:272150-272512	K562	blood:	n/a	n/a
19	ATF1	chr9:428430-428702	K562	blood:	n/a	n/a
20	ATF2	chr9:272677-273240	GM12878	blood:	n/a	n/a
21	ATF2	chr9:272650-273286	GM12878	blood:	n/a	n/a
22	ATF2	chr9:297286-297859	GM12878	blood:	n/a	n/a
23	ATF3	chr9:272081-272576	K562	blood:	n/a	n/a
24	ATF3	chr9:326568-327022	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr9:450112-450344	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr9:470546-470746	H1-hESC	embryonic stem cell:	n/a	n/a
27	BATF	chr9:297420-297885	GM12878	blood:	n/a	chr9:297684-297695 chr9:297685-297695
28	BATF	chr9:278668-278987	GM12878	blood:	n/a	n/a
29	BATF	chr9:297422-297902	GM12878	blood:	n/a	chr9:297684-297695 chr9:297685-297695
30	BCL11A	chr9:331212-331567	H1-hESC	embryonic stem cell:	n/a	n/a
31	BCL3	chr9:463755-464226	A549	lung:	n/a	n/a
32	BCL3	chr9:470157-470838	A549	lung:	n/a	n/a
33	BCL3	chr9:469817-470210	A549	lung:	n/a	chr9:470121-470130
34	BCL3	chr9:489067-489648	A549	lung:	n/a	n/a
35	BCLAF1	chr9:297343-297922	GM12878	blood:	n/a	chr9:297687-297696 chr9:297688-297697
36	BCLAF1	chr9:272677-273191	GM12878	blood:	n/a	chr9:272862-272871
37	BCLAF1	chr9:307023-307293	GM12878	blood:	n/a	n/a
38	BCLAF1	chr9:469741-470596	GM12878	blood:	n/a	chr9:470121-470130
39	BCLAF1	chr9:272658-273387	GM12878	blood:	n/a	chr9:272862-272871
40	BCLAF1	chr9:297419-297950	GM12878	blood:	n/a	chr9:297687-297696 chr9:297688-297697
41	BHLHE40	chr9:272179-272510	K562	blood:	n/a	n/a
42	BHLHE40	chr9:297517-297717	K562	blood:	n/a	n/a
43	BHLHE40	chr9:470231-470621	K562	blood:	n/a	n/a
44	BHLHE40	chr9:259627-260475	K562	blood:	n/a	n/a
45	BHLHE40	chr9:463654-464244	HepG2	liver:	n/a	n/a
46	BHLHE40	chr9:270725-270976	GM12878	blood:	n/a	n/a
47	BHLHE40	chr9:469953-470590	GM12878	blood:	n/a	chr9:470115-470131
48	BHLHE40	chr9:237901-238275	K562	blood:	n/a	chr9:238023-238044
49	BHLHE40	chr9:439327-439591	HepG2	liver:	n/a	n/a
50	BHLHE40	chr9:470898-470911	GM12878	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:471920-471970	NH-A	brain:	n/a
2	chr9:470323-470373	SK-N-SH_RA	brain:	n/a
3	chr9:273072-273122	GM06990	blood:	n/a
4	chr9:469777-469827	NB4	blood:	n/a
5	chr9:472966-473016	SAEC	small airway:	n/a
6	chr9:470323-470373	NHDF-neo	bronchial:	n/a
7	chr9:472966-473016	HepG2	liver:	n/a
8	chr9:426894-426944	HRE	kidney:	n/a
9	chr9:470109-470159	AG09319	gingival:	n/a
10	chr9:470109-470159	HCF	heart:	n/a
11	chr9:273072-273122	ProgFib	skin:	n/a
12	chr9:471920-471970	HEEpiC	esophagus:	n/a
13	chr9:470323-470373	AG09309	skin:	n/a
14	chr9:470323-470373	T-47D	breast:	n/a
15	chr9:470323-470373	ovcar-3	ovarian:	n/a
16	chr9:471920-471970	H1-hESC	embryonic stem cell:	embryo
17	chr9:470109-470159	MCF10A-Er-Src	breast:	n/a
18	chr9:472966-473016	AG04449	skin:	fetal
19	chr9:426894-426944	HepG2	liver:	n/a
20	chr9:426894-426944	HL-60	blood:	n/a
21	chr9:273072-273122	BE2_C	brain:	n/a
22	chr9:470109-470159	IMR90	lung:	fetal
23	chr9:426894-426944	ProgFib	skin:	n/a
24	chr9:471920-471970	HL-60	blood:	n/a
25	chr9:469777-469827	H1-hESC	embryonic stem cell:	embryo
26	chr9:471920-471970	SKMC	muscle:	n/a
27	chr9:469777-469827	HL-60	blood:	n/a
28	chr9:470109-470159	HIPEpiC	eye:	n/a
29	chr9:273072-273122	RPTEC	kidney:	n/a
30	chr9:470323-470373	HEK293	kidney:	embryo
31	chr9:469777-469827	MCF10A-Er-Src	breast:	n/a
32	chr9:471920-471970	Hepatocyte	liver:	n/a
33	chr9:472966-473016	ovcar-3	ovarian:	n/a
34	chr9:471920-471970	NHBE	bronchial:	n/a
35	chr9:273072-273122	GM12878	blood:	n/a
36	chr9:469777-469827	PANC-1	pancreas:	n/a
37	chr9:469777-469827	ECC-1	luminal epithelium:	n/a
38	chr9:469777-469827	NHDF-neo	bronchial:	n/a
39	chr9:470323-470373	SAEC	small airway:	n/a
40	chr9:470109-470159	NHDF-neo	bronchial:	n/a
41	chr9:273072-273122	NHBE	bronchial:	n/a
42	chr9:472966-473016	MCF10A-Er-Src	breast:	n/a
43	chr9:470323-470373	SK-N-SH	brain:	n/a
44	chr9:470109-470159	LNCaP	prostate:	n/a
45	chr9:470323-470373	PFSK-1	brain:	n/a
46	chr9:471920-471970	SK-N-SH	brain:	n/a
47	chr9:470109-470159	HAEpiC	amniotic membrane:	n/a
48	chr9:471920-471970	AG10803	skin:	n/a
49	chr9:472966-473016	IMR90	lung:	fetal
50	chr9:472966-473016	HCPEpiC	choroid plexus:	n/a

(count:153 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr9:316274..318543-chr9:331270..334145,2	MCF-7	breast:
2	chr9:494848..496689-chr9:501659..504144,2	MCF-7	breast:
3	chr9:316274..318543-chr9:331270..334145,2	MCF-7	breast:
4	chr9:324085..328451-chr9:329787..332698,3	K562	blood:
5	chr9:438728..443718-chr9:444221..448963,4	K562	blood:
6	chr9:250806..252981-chr9:269858..272236,2	MCF-7	breast:
7	chr9:235818..237375-chr9:247234..248835,2	K562	blood:
8	chr9:243324..246093-chr9:246428..250809,6	K562	blood:
9	chr9:347477..348464-chr9:378346..378946,4	MCF-7	breast:
10	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
11	chr9:490052..492255-chr9:502875..504712,2	MCF-7	breast:
12	chr9:350965..353575-chr9:397923..399924,2	K562	blood:
13	chr9:237104..239333-chr9:240417..242425,2	K562	blood:
14	chr9:347437..348401-chr9:378296..379161,3	MCF-7	breast:
15	chr9:276314..278461-chr9:285139..287718,2	K562	blood:
16	chr9:270180..272736-chr9:272837..274435,2	K562	blood:
17	chr9:275975..278627-chr9:279451..282123,3	K562	blood:
18	chr9:253544..257279-chr9:268731..273892,6	K562	blood:
19	chr9:387700..389795-chr9:395557..397565,2	MCF-7	breast:
20	chr9:347797..348410-chr9:459774..460369,2	MCF-7	breast:
21	chr9:246731..252463-chr9:270869..275661,7	K562	blood:
22	chr9:385756..386457-chr9:1008777..1009377,2	MCF-7	breast:
23	chr9:277861..283096-chr9:291676..296273,5	K562	blood:
24	chr9:237820..240828-chr9:247584..251042,3	K562	blood:
25	chr9:255761..258409-chr9:263285..266102,2	K562	blood:
26	chr9:213868..216890-chr9:248711..251891,4	K562	blood:
27	chr9:212741..215221-chr9:238241..240048,2	MCF-7	breast:
28	chr9:257830..262248-chr9:271354..273884,5	K562	blood:
29	chr9:252242..255061-chr9:271559..273805,3	K562	blood:
30	chr9:303334..306488-chr9:313112..315414,3	MCF-7	breast:
31	chr9:318530..320927-chr9:322721..325349,2	K562	blood:
32	chr9:385789..386423-chr9:612104..612846,2	K562	blood:
33	chr9:303334..306488-chr9:313112..315414,3	MCF-7	breast:
34	chr9:276287..280123-chr9:282139..284880,4	K562	blood:
35	chr9:396391..399763-chr9:403196..405645,3	K562	blood:
36	chr9:385596..386468-chr9:546637..547164,2	MCF-7	breast:
37	chr9:288330..291260-chr9:302503..304653,3	K562	blood:
38	chr9:324085..328451-chr9:329787..332698,3	K562	blood:
39	chr9:237104..239333-chr9:240417..242425,2	K562	blood:
40	chr9:385679..386467-chr9:459526..460401,4	MCF-7	breast:
41	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
42	chr9:469030..473266-chr9:476113..479118,4	MCF-7	breast:
43	chr9:468830..470676-chr9:503247..506779,4	MCF-7	breast:
44	chr9:288330..291260-chr9:302503..304653,3	K562	blood:
45	chr9:213587..215367-chr9:247326..250011,2	MCF-7	breast:
46	chr9:214091..217459-chr9:295851..299102,3	MCF-7	breast:
47	chr9:265556..268525-chr9:268878..270498,2	K562	blood:
48	chr9:211790..213319-chr9:241598..244495,2	K562	blood:
49	chr9:418287..419917-chr9:426635..429458,2	MCF-7	breast:
50	chr9:288365..290115-chr9:299185..301598,2	MCF-7	breast:

(count:66 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf66-1	chr9:267966-268273	ENSG00000235880.1
2	lnc-DOCK8-5	chr9:476628-476769	NONHSAT129927
3	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
4	lnc-C9orf66-2	chr9:470765-470934	ENSG00000227155.3
5	lnc-C9orf66-2	chr9:456545-456703	ENSG00000227155.3
6	lnc-C9orf66-2	chr9:466688-466853	ENSG00000227155.3
7	lnc-C9orf66-2	chr9:466688-467219	ENSG00000227155.3
8	lnc-C9orf66-1	chr9:272905-273002	ENSG00000235880.1
9	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
10	lnc-C9orf66-2	chr9:456201-456988	ENSG00000227155.3
11	lnc-C9orf66-2	chr9:459716-459815	ENSG00000227155.3
12	lnc-C9orf66-2	chr9:454585-454606	ENSG00000227155.3
13	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
14	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
15	lnc-C9orf66-2	chr9:456518-456703	ENSG00000227155.3
16	lnc-C9orf66-2	chr9:469722-469836	ENSG00000227155.3
17	lnc-C9orf66-2	chr9:459716-460227	ENSG00000227155.3
18	lnc-C9orf66-2	chr9:459716-459866	ENSG00000227155.3
19	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129927
20	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
21	lnc-C9orf66-2	chr9:459716-460507	ENSG00000227155.3
22	lnc-DOCK8-5	chr9:473194-473273	NONHSAT129926
23	lnc-C9orf66-2	chr9:456201-456358	ENSG00000227155.1
24	lnc-C9orf66-2	chr9:454457-454606	ENSG00000227155.3
25	lnc-C9orf66-2	chr9:458117-458281	ENSG00000227155.3
26	lnc-DOCK8-5	chr9:484282-484491	NONHSAT129926
27	lnc-C9orf66-2	chr9:470765-470816	ENSG00000227155.3
28	lnc-C9orf66-2	chr9:492084-492112	ENSG00000227155.3
29	lnc-C9orf66-2	chr9:466900-467336	ENSG00000227155.3
30	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
31	lnc-C9orf66-2	chr9:454432-454606	ENSG00000227155.3
32	lnc-DOCK8-5	chr9:471467-471586	NONHSAT129927
33	lnc-C9orf66-2	chr9:454447-454606	ENSG00000227155.3
34	lnc-C9orf66-2	chr9:454576-454606	ENSG00000227155.3
35	lnc-C9orf66-2	chr9:466688-466866	ENSG00000227155.3
36	lnc-C9orf66-2	chr9:469722-469802	ENSG00000227155.3
37	lnc-C9orf66-2	chr9:458370-458423	ENSG00000227155.3
38	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
39	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
40	lnc-C9orf66-2	chr9:456204-456703	ENSG00000227155.3
41	lnc-C9orf66-2	chr9:456530-456703	ENSG00000227155.3
42	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
43	lnc-C9orf66-2	chr9:457004-457047	ENSG00000227155.3
44	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
45	lnc-DOCK8-5	chr9:471449-471586	NONHSAT129926
46	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
47	lnc-DOCK8-5	chr9:470592-470677	NONHSAT129926
48	lnc-C9orf66-2	chr9:465962-466069	ENSG00000227155.3
49	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
50	lnc-C9orf66-2	chr9:488957-489066	ENSG00000227155.3

No data

Variant related genes	Relation type
DOCK8	TF binding region
ENSG00000227155	TF binding region
ENSG00000235880	TF binding region
KANK1	TF binding region
ENSG00000235330	TF binding region
ENSG00000228115	TF binding region
DOCK8	CpG island
ENSG00000227155	CpG island
ENSG00000235880	CpG island
KANK1	CpG island
ENSG00000235330	CpG island
ENSG00000228115	CpG island
ENSG00000074603	chromatin interactions
ENSG00000235330	chromatin interactions
ENSG00000183784	chromatin interactions
ENSG00000169641	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000235880	chromatin interactions
ENSG00000226403	chromatin interactions
ENSG00000065978	chromatin interactions
ENSG00000107104	chromatin interactions
ENSG00000107099	chromatin interactions

Extended variants
information (count: 14374 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:14374 , 50 per page) page: 1 2 3 4 5 6 7 ... 288

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542929844	chr9:236097-236098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561610977	chr9:236114-236115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113349467	chr9:236135-236136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573116235	chr9:236143-236144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187393401	chr9:236167-236168	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192131696	chr9:236175-236176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183054956	chr9:236193-236194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62531271	chr9:236202-236203	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373508935	chr9:236256-236257	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559799315	chr9:236287-236288	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79186747	chr9:236318-236319	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141904664	chr9:236330-236331	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187396760	chr9:236392-236393	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192087096	chr9:236461-236462	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552360709	chr9:236542-236543	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558544704	chr9:236566-236567	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570508336	chr9:236605-236606	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534434850	chr9:236610-236611	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376161432	chr9:236695-236696	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552616410	chr9:236700-236701	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567753408	chr9:236701-236702	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377545148	chr9:236702-236703	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535079728	chr9:236746-236747	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555003965	chr9:236751-236752	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578244347	chr9:236768-236769	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182767665	chr9:236773-236774	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10119664	chr9:236779-236780	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9298840	chr9:236784-236785	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188239408	chr9:236792-236793	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138995923	chr9:236799-236800	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559860315	chr9:236815-236816	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77490619	chr9:236827-236828	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs496152	chr9:236828-236829	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs149882996	chr9:236867-236868	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12236521	chr9:236906-236907	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34898342	chr9:236920-236921	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34702274	chr9:236946-236947	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530839426	chr9:236956-236957	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115611252	chr9:236965-236966	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10120370	chr9:237001-237002	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192483541	chr9:237024-237025	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545222581	chr9:237056-237057	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143937808	chr9:237069-237070	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148646160	chr9:237070-237071	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144804441	chr9:237087-237088	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556918085	chr9:237096-237097	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375495022	chr9:237115-237116	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184280675	chr9:237117-237118	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558969401	chr9:237128-237129	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543211474	chr9:237136-237137	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Myelodysplastic syndrome	21251322	CNVD
Primary immunodeficiency	22942019	CNVD
Melanoma	20877625	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:3648 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:219000-261400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr9:225000-236400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:225400-236400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr9:225600-237000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:226600-236600	Weak transcription	Spleen	Spleen
6	chr9:228800-236200	Weak transcription	Primary B cells from cord blood	blood
7	chr9:229600-236400	Weak transcription	K562	blood
8	chr9:229800-236200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr9:230400-236600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr9:235800-237200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:235800-237200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:235800-249200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:236000-236600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr9:236000-237000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr9:236200-237200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr9:236200-237200	ZNF genes & repeats	Primary B cells from cord blood	blood
17	chr9:236400-237000	ZNF genes & repeats	K562	blood
18	chr9:236400-237400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr9:236400-239200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr9:236400-239400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr9:236600-237000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr9:236600-237200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr9:236600-237400	Enhancers	Spleen	Spleen
24	chr9:237000-237200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr9:237000-237200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr9:237000-237200	Flanking Active TSS	K562	blood
27	chr9:237000-237800	Enhancers	Primary hematopoietic stem cells	blood
28	chr9:237000-238200	Genic enhancers	Monocytes-CD14+_RO01746	blood
29	chr9:237000-238600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr9:237000-238600	Enhancers	Dnd41	blood
31	chr9:237000-239000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr9:237000-239000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr9:237000-239000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr9:237200-237400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
35	chr9:237200-237800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:237200-238000	Enhancers	K562	blood
37	chr9:237200-238200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr9:237200-238400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr9:237200-238400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr9:237200-238400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr9:237200-238400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:237200-238600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr9:237200-238600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr9:237200-238800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr9:237200-239000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr9:237200-248800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr9:237200-251200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:237200-257400	Weak transcription	Primary B cells from cord blood	blood
49	chr9:237400-237600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr9:237400-248200	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links